Genetics and Metabolism Contact number | 202-476-2187

A child and a nurse from the Cancer Genetics Clinic with pediatric oncologists, geneticists and genetic counselors.

Our Experts are International Leaders

Marshall Summar, MD, our Chief of Genetics, brings childhood rare diseases into the national and international spotlight.

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With more than 8,500 visits annually and 12 physicians, Children’s National Health System is now the largest clinical genetics program in the United States.

Our division coordinates the multidisciplinary care of children with genetic and metabolic disorders or complex birth defects, within the division and in collaboration with primary care physicians and specialists from other divisions at Children’s National. Additionally, every geneticist at Children’s National works in concert with a genetic counselor to manage both the clinical and practical aspects of treatment and nearly every clinician is involved in research.

The division’s team of world-renowned medical experts, biochemical nutritionists, and genetic counselors care for your child’s physical needs, while our social workers, child-life specialists, and pastoral-care staff offer care for your child’s and your family’s emotional, spiritual, and mental health.

Conditions we care for include:

  • Birth defects 
  • Down Syndrome 
  • Genetic disorders of all types
  • Inborn metabolism errors
  • Abnormal newborn screening results
  • Lysosomal storage disorders
  • Metabolic disorders
  • Neurofibromatosis
  • Skeletal dysplasias
  • Family counseling
  • Genetic risk counseling
  • Cardiac genetics
  • Genetic syndromes
  • Genetic testing interpretation
  • Adult genetic conditions
  • Craniofacial defects
  • DiGeorge syndrome

Leaders in Diagnosing and Treating Rare Disease

Children’s National is nationally acknowledged as a leader in treating metabolic diseases and internationally recognized for urea cycle disorder and lysosomal storage disease treatment. The well-rounded nature of the clinical team also makes Children’s National a noted destination for treatment of some of the rarest genetic disorders, including N-acetylglutamate synthase deficiency, vitamin B12 methylation deficiency, and organic acidemia disorders. 

Genetic Counseling and Family Services

What sets genetic counseling at Children’s apart is our commitment to providing compassionate support for the entire family. We provide genetic counseling services for families with a known genetic disorder and recurrence risk counseling for parents of a child with an inherited condition.

Our genetic counselors provide information on family planning options, explain the testing options available to you, and help coordinate referrals for related specialists at Children’s National. We see patients through self-referral or with referral from a primary care physician or another subspecialty clinic within Children’s National.

We also offer carrier screenings for ethnic groups with a higher risk of inherited disorders, including those of Ashkenazi Jewish ancestry, Mediterranean descent, African American ancestry, and Northern Europeans.

Our other services offered:

  • Diagnosis and management of children and adults with birth defects and genetic disorders
  • New, telemedicine consult program to regional nurseries and physicians
  • Continuity of care through multidisciplinary clinics, including neurofibromatosis, skeletal dysplasias, Down syndrome, and inborn errors of metabolism
  • Prenatal services for at-risk pregnancies with transition to coordinated management of the newborn, in conjunction with the Division of Fetal and Transitional Medicine
  • Genetic counseling for individuals and families with a history or suspected history of a genetic disorder
  • Carrier screening and genetic counseling for high-risk groups
  • Diagnosis and management of children and adults with inborn errors of metabolism including those requiring special metabolic diet
  • Comprehensive care for individuals with lysosomal storage disorders including enzyme replacement, pharmacologic chaperone, and substrate reduction therapies
  • 24-hour emergency consultations and telemedicine services at area hospitals for newborns with birth defects or suspected genetic or metabolic disorder
  • Emergency consultation and definitive testing for newborns with abnormal state newborn screens (PKU test)

Children’s National also provides educational outreach to community physicians, schools, and families through lectures, seminars, and parent support groups.

You will be seen by both a geneticist and a genetic counselor, both of whom will submit a bill to your insurance provider. If you have health insurance that requires a referral and/or authorization for Geneticist or Genetic Counseling services, please have the referral faxed to our clinic at 202-476-2390. If you are unsure if you need a referral, please contact your primary care physician or health insurance.

Genetics and Metabolism Team

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We see children from around the Washington, DC, area, nation, and world who need the specialized expertise and child-focused care we offer.

Related Care Services

Pediatric specialists work closely to ensure an integrated approach to caring for each child and family.